Anne Puel

I am an INSERM CR1 senior scientist in the Laboratory of Human Genetics of Infectious Disease (Necker Hospital, Imagine Institute, Paris). I am co-leading the team working on the genetic determinism of bacterial infections in children and leading the team working on the genetic determinism of severe fungal infections in humans. In particular, within the last five years, we have contributed in deciphering the pathogenesis of chronic mucocutaneous candidiasis (CMC) in primary immunodeficiencies, with the discovery of autoantibodies against IL-17 cytokines in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED or APS-1) patients or impaired Th17 cells in autosomal dominant hyper IgE syndrome (AD-HIES) patients (J. Exp. Med. 2008 and J. Exp. Med. 2010). In 2011, we have discovered the first three genetic etiologies of CMC disease (CMCD) with autosomal recessive IL-17 receptor (IL-17RA) deficiency, autosomal dominant IL-17F deficiency and autosomal dominant STAT1 gain-of-function (Science 2011, J. Exp. Med. 2011). We are now investigating “idiopathic” invasive fungal infections and have identified CARD9 as a key player in immunity to various invasive fungal infections (N. Engl J Med, in press, manuscript in preparation). Our project aims at deciphering the molecular and cellular mechanisms of human immunity to fungi. The elucidation of the pathogenesis of CMCD and idiopathic invasive fungal infections will also benefit patients and their families (molecular diagnoses and genetic counselling), and should help in developing new immunotherapeutic treatments for these diseases, in addition to antifungal agents.

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